• Gene id: 84812

Gene Summary

• Gene Symbol: PLCD4   Gene   UCSC   Ensembl
• Gene name: phospholipase C delta 4
• Alternate names: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4, PLC delta4, phosphoinositide phospholipase C-delta-4,
• Gene location: 2q35 (218606870: 218637185)     Exons: 19     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5

Protein Summary

• Protein general information: Q9BRC7  
  • Name: 1 phosphatidylinositol 4,5 bisphosphate phosphodiesterase delta 4 (hPLCD4) (EC 3.1.4.11) (Phosphoinositide phospholipase C delta 4) (Phospholipase C delta 4) (PLC delta 4)
  • Length: 762  
  • Mass: 87585
  • Tissue specificity: Highly expressed in skeletal muscle and kidney tissues, and at moderate level in intestinal tissue. Expressed in corneal epithelial cells. {ECO
• Sequence:

  MASLLQDQLTTDQDLLLMQEGMPMRKVRSKSWKKLRYFRLQNDGMTVWHARQARGSAKPSFSISDVETIRNGHDS
  ELLRSLAEELPLEQGFTIVFHGRRSNLDLMANSVEEAQIWMRGLQLLVDLVTSMDHQERLDQWLSDWFQRGDKNQ
  DGKMSFQEVQRLLHLMNVEMDQEYAFSLFQAADTSQSGTLEGEEFVQFYKALTKRAEVQELFESFSADGQKLTLL
  EFLDFLQEEQKERDCTSELALELIDRYEPSDSGKLRHVLSMDGFLSYLCSKDGDIFNPACLPIYQDMTQPLNHYF
  ICSSHNTYLVGDQLCGQSSVEGYIRALKRGCRCVEVDVWDGPSGEPVVYHGHTLTSRILFKDVVATVAQYAFQTS
  DYPVILSLETHCSWEQQQTMARHLTEILGEQLLSTTLDGVLPTQLPSPEELRRKILVKGKKLTLEEDLEYEEEEA
  EPELEESELALESQFETEPEPQEQNLQNKDKKKKSKPILCPALSSLVIYLKSVSFRSFTHSKEHYHFYEISSFSE
  TKAKRLIKEAGNEFVQHNTWQLSRVYPSGLRTDSSNYNPQELWNAGCQMVAMNMQTAGLEMDICDGHFRQNGGCG
  YVLKPDFLRDIQSSFHPEKPISPFKAQTLLIQVISGQQLPKVDKTKEGSIVDPLVKVQIFGVRLDTARQETNYVE
  NNGFNPYWGQTLCFRVLVPELAMLRFVVMDYDWKSRNDFIGQYTLPWTCMQQGYRHIHLLSKDGISLRPASIFVY
  ICIQEGLEGDES

• Structural information:
  • Protein Domains: (16..12-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (134..16-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (170..20-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448";-)
  • Interpro: IPR000008  IPR035892  IPR011992  IPR018247  IPR002048   IPR011993  IPR001849  IPR001192  IPR028387  IPR017946  IPR015359  IPR000909  IPR001711  
  • Prosite: PS50004 PS00018 PS50222 PS50003 PS50007 PS50008
  • STRING: ENSP00000388631
• Other Databases: GeneCards:  PLCD4  Malacards:  PLCD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004435	phosphatidylinositol phospholipase C activity	IBA	molecular function
GO:0032959	inositol trisphosphate biosynthetic process	IBA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0046488	phosphatidylinositol metabolic process	IEA	biological process
GO:0004629	phospholipase C activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0007340	acrosome reaction	IEA	biological process
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007340	acrosome reaction	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05131	Shigellosis
hsa04020	Calcium signaling pathway
hsa04070	Phosphatidylinositol signaling system
hsa04919	Thyroid hormone signaling pathway
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq